Canonical Allele Identifier: CA10626441
Gene: HSPB1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.76302591G>T
GRCh37 chr7:g.75931908G>T
gnomAD v2:
7:75931908 G / T
gnomAD v3:
7:76302591 G / T
gnomAD v4:
chr7-76302591-G-T
Joint Max Group AF 0.00165167 (AMR)
Genomes Max Group AF 0.0009725 (AMR)
Exomes Max Group AF 0.00179532 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76302591G>T , CM000669.2:g.76302591G>T GRCh38
NC_000007.13:g.75931908G>T , CM000669.1:g.75931908G>T GRCh37
NC_000007.12:g.75769844G>T NCBI36
NG_008995.1:g.5034G>T , LRG_248:g.5034G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.6:c.-122G>T ENSP00000248553.6:n.-122G>T
NM_001540.3:c.-122G>T , LRG_248t1:c.-122G>T NP_001531.1:n.-122G>T
NM_001540.4:c.-122G>T NP_001531.1:n.-122G>T
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